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BIO301 Essentials of Genetics GDB Fall 2020 Solution / Discussion

BIO301 GDB Fall 2020 solution idea:


Discuss polymorphism and its various types.


Polymorphism is the occurrence of two or more clearly different morphs or forms also referred to as alternative phenotypes in the population of a species. Polymorphism is when there are two or more possibilities of a trait on a gene. For example there is more than one possible trait in terms of a frog's skin coloring; they can be light morph or dark morph.

  • Single nucleotide polymorphisms (SNPs)
  • Small-scale insertions/deletions
  • Polymorphic repetitive elements
  • Microsatellite variation


Single nucleotide polymorphisms (SNPs)

A single-nucleotide polymorphism (SNP, pronounced snip) is a DNA sequence variation occurring when a single nucleotide adenine (A), thymine (T), cytosine (C), or guanine (G]) in the genome (or other shared sequence) differs between members of a species or paired chromosomes in an individual. For example two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA contain a difference in a single nucleotide. In this case we say that there are two alleles: C and T.


Small-scale insertions/deletions

Small insertions and deletions (InDels) are the second most abundant kind of genetic variants in the genome after single nucleotide polymorphisms (SNPs) and are the most common type of structural variants.


Polymorphic repetitive elements

DNA repeats can be classified as interspersed repeats or tandem repeats. This can comprise over two-thirds of the human genome. Interspersed repeats are dispersed across the genome within gene sequences or intergenic and include retro (pseudo) genes and transposons. Centromeres and telomeres largely comprise tandem repeats. Despite increasing evidence on the functionality of DNA repeats their biologic role is still elusive and under frequent debate.


Microsatellites variation

Microsatellites are short tandem repeats (STRs), repeat units or motifs of less than 10 bp; because of high variability microsatellite loci are often used in forensics, population genetics, and genetic genealogy. Significant associations were demonstrated between microsatellite variants and many diseases.

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